Canonical Allele Identifier: CA413171107
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255828T>G , CM000685.2:g.53255828T>G GRCh38
NC_000023.10:g.53285010T>G , CM000685.1:g.53285010T>G GRCh37
NC_000023.9:g.53301735T>G NCBI36
NG_021296.1:g.70513A>C
NG_021296.2:g.70523A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.1130A>C ENSP00000516672.1:p.Glu377Ala
ENST00000638630.1:c.260A>C ENSP00000492390.1:p.Glu87Ala
ENST00000640694.1:c.971A>C ENSP00000492403.1:p.Glu324Ala
ENST00000642864.1:c.971A>C MANE Select ENSP00000495726.1:p.Glu324Ala
ENST00000674510.1:c.971A>C ENSP00000502054.1:p.Glu324Ala
ENST00000675719.1:c.941A>C ENSP00000501927.1:p.Glu314Ala
ENST00000375365.2:c.356A>C ENSP00000364514.2:p.Glu119Ala
ENST00000396435.7:c.971A>C ENSP00000379712.3:p.Glu324Ala
NM_001111125.2:c.971A>C NP_001104595.1:p.Glu324Ala
NM_015075.1:c.356A>C NP_055890.1:p.Glu119Ala
XM_006724579.2:c.1067A>C XP_006724642.1:p.Glu356Ala
XM_006724580.2:c.356A>C XP_006724643.1:p.Glu119Ala
XM_006724581.2:c.1067A>C XP_006724644.1:p.Glu356Ala
XM_006724582.2:c.1067A>C XP_006724645.1:p.Glu356Ala
XM_006724583.2:c.1067A>C XP_006724646.1:p.Glu356Ala
XM_006724584.2:c.1067A>C XP_006724647.1:p.Glu356Ala
XM_011530772.1:c.293A>C XP_011529074.1:p.Glu98Ala
XM_011530773.1:c.260A>C XP_011529075.1:p.Glu87Ala
XM_011530774.1:c.1067A>C XP_011529076.1:p.Glu356Ala
XM_011530775.1:c.1067A>C XP_011529077.1:p.Glu356Ala
XM_011530776.1:c.1067A>C XP_011529078.1:p.Glu356Ala
XM_011530777.1:c.1067A>C XP_011529079.1:p.Glu356Ala
XR_938365.1:n.1294A>C
XM_006724579.3:c.1067A>C XP_006724642.1:p.Glu356Ala
XM_006724580.3:c.356A>C XP_006724643.1:p.Glu119Ala
XM_006724581.4:c.1067A>C XP_006724644.1:p.Glu356Ala
XM_006724582.4:c.1067A>C XP_006724645.1:p.Glu356Ala
XM_006724583.4:c.1067A>C XP_006724646.1:p.Glu356Ala
XM_006724584.3:c.1067A>C XP_006724647.1:p.Glu356Ala
XM_011530773.2:c.260A>C XP_011529075.1:p.Glu87Ala
XM_011530774.3:c.1067A>C XP_011529076.1:p.Glu356Ala
XM_011530776.2:c.1067A>C XP_011529078.1:p.Glu356Ala
XM_011530777.2:c.1067A>C XP_011529079.1:p.Glu356Ala
XM_017029359.2:c.941A>C XP_016884848.1:p.Glu314Ala
XM_017029360.1:c.473A>C XP_016884849.1:p.Glu158Ala
XR_938365.2:n.1288A>C
NM_001111125.3:c.971A>C MANE Select NP_001104595.1:p.Glu324Ala
NM_015075.2:c.356A>C NP_055890.1:p.Glu119Ala